Variant #0000686947 (NC_000006.11:g.137143934G>C, PEX7(NM_000288.3):c.130+1G>C)

Individual ID 00310369
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.137143934G>C
DNA change (hg38) g.136822796G>C
Published as -
ISCN -
DB-ID PEX7_000080
Variant remarks -
Reference PubMed: Motley 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX7 NM_000288.3 +/. - c.130+1G>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311518 DNA SEQ - - PEX7 1 Johan den Dunnen